SCN8A-related brain disorder and potential treatments
SCN8A encephalopathy: disease mechanisms and treatment
This project aims to understand how changes in the SCN8A gene cause seizures, autism, and developmental delays so people with SCN8A-related conditions can get better treatments.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Emory University NIH-funded |
| Lab location | 1 site (Atlanta, United States) |
| Project ID | NIH-11285465 on NIH RePORTER |
What this research studies
Researchers will study how different SCN8A mutations change nerve cell activity using mouse models and laboratory cell assays. They will pinpoint which brain cell types and regions drive seizures versus those that protect against them. The team will link these circuit findings to behavior and molecular markers and try candidate anti-seizure approaches in the lab. The ultimate goal is to move promising leads toward therapies for people with SCN8A-related epilepsy, autism, or developmental disability.
Who could benefit from this research
Good fit: Ideal candidates are people with a confirmed SCN8A mutation who have epilepsy, developmental delay, or autism-related symptoms.
Not a fit: People without SCN8A mutations or whose symptoms are caused by other conditions are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could lead to more targeted treatments that reduce seizures and improve development for people with SCN8A mutations.
How similar studies have performed: Prior genetic and animal studies have linked SCN8A to epilepsy and neurodevelopmental disorders, but directly targeted treatments remain largely experimental.
Where this research is happening
Atlanta, United States
- Emory University — Atlanta, United States (Active)
Researchers
- Principal investigator: Escayg, Andrew P — Emory University
- Study coordinator: Escayg, Andrew P
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.